CABP2 Patient Registry and Natural History Study

NCT06680934 — Recruiting, 100 participants, University Medical Center Goettingen

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Patient Registry for Individuals With CABP2-Associated Hearing Loss

Registry	NCT06680934
Status	Recruiting
Study type	Observational
Enrollment	100 (Estimated)
Sponsor	University Medical Center Goettingen (Other)
Conditions	CABP2-related Auditory Synaptopathy, Hearing Impairment
Interventions	Molecular genetic testing and audiometry (Diagnostic test)
Dates	start 2024-08-16, primary completion 2049-08-16 (estimated), completion 2049-08-16 (estimated), first posted 2024-11-08, last updated 2026-01-27
Locations	1 site in Germany

-Summary

This registry is designed to collect comprehensive information about the molecular genetic diagnoses and clinical information of individuals with CABP2-associated hearing impairment to support a natural history study.

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+Detailed description

A patient registry, in both German and English languages, has been established for patients with hereditary hearing impairment due to variants in CABP2. The study is conducted in accordance with the current version of the Declaration of Helsinki. The study protocol and database structure have been approved by the Ethics Committee of the University Medical Center Goettingen.

+Arms and interventions

Arm	Type	Interventions	Description
CABP2 participant group		Diagnostic Test: Molecular genetic testing and audiometry	Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2

Molecular genetic testing and audiometry (Diagnostic test): Genetic testing and audiometry are the interventions of interest

+Outcome measures

Primary outcomes

Pure-tone audiometry [1 year, year 1, according to participant consent]: Pure tone audiometry is a behavioral hearing test used to measure an individual's hearing threshold levels
Speech audiometry [1 year, year 1, according to participant consent]: Speech audiometry is a test or series of tests to determine a patient's ability to discriminate speech sounds and hearing speech or speech in noise

Secondary outcomes

Otoacoustic emission thresholds [1 year, year 1, according to participant consent]: Otoacoustic emission thresholds serve as indicators of integrity and function of the outer hair cells in the cochlea
Auditory brainstem response [1 year, year 1, according to participant consent]: Auditory brainstem response tests the functional status of the auditory neural pathway

+Eligibility

Sex: All

Inclusion Criteria:

* A molecular genetic diagnosis involving biallelic variants in CAPB2 and audiometry

Exclusion Criteria:

* Patients with evidence of non-CABP2 molecular genetic diagnoses

+Locations (1)

Facility	City	Country	Status
University Medical Center Goettingen	Göttingen	Germany	Recruiting

+Publications

Results publication: Vona B, Wollnik B, Strenzke N, Pangrsic T, Moser T. Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry. MedComm (2020). 2025 Sep 8;6(9):e70363. doi: 10.1002/mco2.70363. eCollection 2025 Sep. PMID 40927552

+Study documents

Study Protocol (PDF, 2025-05-16)

+Investigators

Tobias Moser, MD, Study director, University Medical Center Goettingen
Bernd Wollnik, MD, Principal investigator, University Medical Center Goettingen
Nicola Strenzke, MD, Principal investigator, University Medical Center Goettingen
Barbara Vona, PhD, Principal investigator, University Medical Center Goettingen